Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894052
rs104894052
SHH
2 0.925 0.160 7 155803294 missense variant A/G snv 0.700 1.000 12 1996 2009